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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 15-44584209-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=44584209&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPG11",
"hgnc_id": 11226,
"hgvs_c": "c.5471G>A",
"hgvs_p": "p.Arg1824Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_025137.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1",
"acmg_score": -8,
"allele_count_reference_population": 139,
"alphamissense_prediction": null,
"alphamissense_score": 0.0654,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "15",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Amyotrophic lateral sclerosis type 5,Charcot-Marie-Tooth disease axonal type 2X,Hereditary spastic paraplegia 11,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:8 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.009690642356872559,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2443,
"aa_ref": "R",
"aa_start": 1824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7772,
"cdna_start": 5486,
"cds_end": null,
"cds_length": 7332,
"cds_start": 5471,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_025137.4",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "c.5471G>A",
"hgvs_p": "p.Arg1824Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261866.12",
"protein_coding": true,
"protein_id": "NP_079413.3",
"strand": false,
"transcript": "NM_025137.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2443,
"aa_ref": "R",
"aa_start": 1824,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7772,
"cdna_start": 5486,
"cds_end": null,
"cds_length": 7332,
"cds_start": 5471,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000261866.12",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "c.5471G>A",
"hgvs_p": "p.Arg1824Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025137.4",
"protein_coding": true,
"protein_id": "ENSP00000261866.7",
"strand": false,
"transcript": "ENST00000261866.12",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2330,
"aa_ref": "R",
"aa_start": 1824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7288,
"cdna_start": 5499,
"cds_end": null,
"cds_length": 6993,
"cds_start": 5471,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000535302.6",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "c.5471G>A",
"hgvs_p": "p.Arg1824Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445278.2",
"strand": false,
"transcript": "ENST00000535302.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2265,
"aa_ref": "R",
"aa_start": 1824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6935,
"cdna_start": 5471,
"cds_end": null,
"cds_length": 6798,
"cds_start": 5471,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000427534.6",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "c.5471G>A",
"hgvs_p": "p.Arg1824Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396110.2",
"strand": false,
"transcript": "ENST00000427534.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2465,
"aa_ref": "R",
"aa_start": 1846,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7831,
"cdna_start": 5545,
"cds_end": null,
"cds_length": 7398,
"cds_start": 5537,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000920242.1",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "c.5537G>A",
"hgvs_p": "p.Arg1846Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590301.1",
"strand": false,
"transcript": "ENST00000920242.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2407,
"aa_ref": "R",
"aa_start": 1824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7679,
"cdna_start": 5501,
"cds_end": null,
"cds_length": 7224,
"cds_start": 5471,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000920240.1",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "c.5471G>A",
"hgvs_p": "p.Arg1824Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590299.1",
"strand": false,
"transcript": "ENST00000920240.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2395,
"aa_ref": "R",
"aa_start": 1776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7628,
"cdna_start": 5342,
"cds_end": null,
"cds_length": 7188,
"cds_start": 5327,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001411132.1",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "c.5327G>A",
"hgvs_p": "p.Arg1776Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398061.1",
"strand": false,
"transcript": "NM_001411132.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2395,
"aa_ref": "R",
"aa_start": 1776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7624,
"cdna_start": 5358,
"cds_end": null,
"cds_length": 7188,
"cds_start": 5327,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000682065.1",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "c.5327G>A",
"hgvs_p": "p.Arg1776Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507025.1",
"strand": false,
"transcript": "ENST00000682065.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2392,
"aa_ref": "R",
"aa_start": 1824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7574,
"cdna_start": 5502,
"cds_end": null,
"cds_length": 7179,
"cds_start": 5471,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000684235.1",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "c.5471G>A",
"hgvs_p": "p.Arg1824Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508295.1",
"strand": false,
"transcript": "ENST00000684235.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2376,
"aa_ref": "R",
"aa_start": 1757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7567,
"cdna_start": 5301,
"cds_end": null,
"cds_length": 7131,
"cds_start": 5270,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000682669.1",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "c.5270G>A",
"hgvs_p": "p.Arg1757Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507782.1",
"strand": false,
"transcript": "ENST00000682669.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2357,
"aa_ref": "R",
"aa_start": 1738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7524,
"cdna_start": 5239,
"cds_end": null,
"cds_length": 7074,
"cds_start": 5213,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000920241.1",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "c.5213G>A",
"hgvs_p": "p.Arg1738Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590300.1",
"strand": false,
"transcript": "ENST00000920241.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2330,
"aa_ref": "R",
"aa_start": 1824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7433,
"cdna_start": 5486,
"cds_end": null,
"cds_length": 6993,
"cds_start": 5471,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001160227.2",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "c.5471G>A",
"hgvs_p": "p.Arg1824Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153699.1",
"strand": false,
"transcript": "NM_001160227.2",
"transcript_support_level": null
},
{
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"aa_length": 2284,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7279,
"cdna_start": 5471,
"cds_end": null,
"cds_length": 6855,
"cds_start": 5471,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000559511.6",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "c.5471G>A",
"hgvs_p": "p.Arg1824Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453246.2",
"strand": false,
"transcript": "ENST00000559511.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2079,
"aa_ref": "R",
"aa_start": 1824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6426,
"cdna_start": 5502,
"cds_end": null,
"cds_length": 6240,
"cds_start": 5471,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000558319.5",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "c.5471G>A",
"hgvs_p": "p.Arg1824Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453599.1",
"strand": false,
"transcript": "ENST00000558319.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2242,
"aa_ref": "R",
"aa_start": 1623,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8018,
"cdna_start": 5732,
"cds_end": null,
"cds_length": 6729,
"cds_start": 4868,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_047433144.1",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "c.4868G>A",
"hgvs_p": "p.Arg1623Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289100.1",
"strand": false,
"transcript": "XM_047433144.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1402,
"aa_ref": "R",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4738,
"cdna_start": 2452,
"cds_end": null,
"cds_length": 4209,
"cds_start": 2348,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047433146.1",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "c.2348G>A",
"hgvs_p": "p.Arg783Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289102.1",
"strand": false,
"transcript": "XM_047433146.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000561391.2",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "n.1699G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000561391.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7691,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 40,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000682460.1",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "n.*1728G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508334.1",
"strand": false,
"transcript": "ENST00000682460.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7893,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 41,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000682495.1",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "n.*1963G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507166.1",
"strand": false,
"transcript": "ENST00000682495.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7578,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 38,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000683186.1",
"gene_hgnc_id": 11226,
"gene_symbol": "SPG11",
"hgvs_c": "n.*2234G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507268.1",
"strand": false,
"transcript": "ENST00000683186.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7425,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 38,
"exon_rank": 30,
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